GDE1 (Glycerophosphodiester Phosphodiesterase 1)
A key enzyme in glycerophospholipid metabolism with roles in cell signaling and potential links to neurological and metabolic disorders.
Gene Information Card
| Symbol | GDE1 |
|---|---|
| Full Name | Glycerophosphodiester Phosphodiesterase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 16p12.2 |
| NCBI Gene ID | 51573 ncbi.nlm.nih.gov/gene/51573 |
| Ensembl ID | ENSG00000140987 |
| UniProt ID | Q9NZC3 |
| OMIM ID | 610393 |
| HGNC ID | 28826 |
| Aliases | GPDE1, MIR16 |
Description
GDE1 encodes a glycerophosphodiester phosphodiesterase enzyme that catalyzes the hydrolysis of glycerophosphodiesters to sn-glycerol-3-phosphate and an alcohol. This enzyme is involved in glycerophospholipid metabolism and may play a role in cell signaling, particularly in the brain and other tissues. The gene is located on chromosome 16p12.2 and is expressed in multiple tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual Disability | Altered glycerophospholipid metabolism may disrupt neuronal membrane composition and signaling. | OMIM #610393; ClinVar |
| Schizophrenia | Potential dysregulation of GDE1 expression in brain regions linked to synaptic function. | NCBI Gene; PubMed studies |
| Metabolic Syndrome | GDE1 involvement in lipid metabolism may influence insulin sensitivity and adiposity. | UniProt; literature review |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Liver | 8.3 | Low |
| Kidney | 6.7 | Low |
| Testis | 15.2 | Medium |
| Heart | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.2 | Embryonic kidney cells; moderate expression |
| SH-SY5Y | 14.8 | Neuroblastoma cells; higher expression |
| HepG2 | 7.6 | Hepatocellular carcinoma cells; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.347C>T (p.Thr116Met) | Missense | 0.001% | Unknown; predicted benign by SIFT |
| c.502G>A (p.Gly168Arg) | Missense | 0.002% | Unknown; predicted damaging by PolyPhen |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • glycerophosphodiester phosphodiesterase activity | • hydrolase activity |
| • glycerol-3-phosphate metabolic process | • phospholipid catabolic process |
| • membrane |
Pathways
• Glycerophospholipid metabolism (Reactome: R-HSA-1483206)
• Phospholipid metabolism (KEGG: hsa00564)
Protein Summary
GDE1 is a 39 kDa membrane-associated protein localized to the endoplasmic reticulum and plasma membrane. It contains a conserved glycerophosphodiester phosphodiesterase domain and is involved in the breakdown of glycerophosphodiesters, contributing to lipid homeostasis and signaling molecule production.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GDE1 Knockout HEK293 Cell Line | EDJ-KQ2108 | Human | 51573 | Details Get a Quote |
| GDE1 Knockout A-549 Cell Line | EDJ-KQ22232 | Human | 51573 | Details Get a Quote |
| GDE1 Knockout HCT 116 Cell Line | EDJ-KQ22233 | Human | 51573 | Details Get a Quote |
| GDE1 Knockout HeLa Cell Line | EDJ-KQ22234 | Human | 51573 | Details Get a Quote |
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